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Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

Abstract：

:Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion. Studies of terminal and interstitial deletions in male patients with a partial nullisomy of the X chromosome have led to the identification of the VCX-3A gene at the MRX49 locus on Xp22.3. The NLGN4X gene has then been identified less than 350 kb away from VCX-3A. Nonsense mutations in NLGN4X have been associated with autism and/or moderate mental retardation in males. We report a 17-year old male patient presenting with severe ichthyosis and Kallmann syndrome related to a 3.7 Mb interstitial Xp22.3 deletion, encompassing STS and KAL1 genes, respectively. However, despite the deletion of NLGN4X and all VCX genes, including VCX-3A, our patient did not manifest any learning disabilities or behavioural problems. Therefore, our case argues against a major role of NLGN4X and the VCX genes alone in cognitive development and/or communication processes.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Mochel F,Missirian C,Reynaud R,Moncla A

doi

10.1016/j.ejmg.2007.11.002

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

68-73

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(07)00120-6

journal_volume

51

pub_type

杂志文章

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